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Perspectives on hand function in girls and women with Rett syndromeHand function is particularly affected and we discuss theoretical and practical perspectives for optimising hand function in Rett syndrome.
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Community participation for girls and women living with Rett syndromeParticipation for girls and women with Rett syndrome could be enhanced by stronger local community supports.
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The experiences of mothers of young adults with an intellectual disability transitioning from secondary school to adult lifeThe transition from school to adulthood for young adults with an intellectual disability involves movement from a generally secure and supported school...
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The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathyThe clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres.
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Caring for a child with severe intellectual disability in China: The example of Rett syndromeIntellectual disability affects more than 1.5% of the population of children in developing countries yet we know little about the daily lives and support...
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Early development and regression in Rett syndromeOur findings provide additional insight into the early clinical profile of Rett syndrome.
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What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?The MECP2 mutations occurring in the severe neurological disorder Rett syndrome are predominantly de novo, with rare familial cases. The aims of this study...
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The phenotype associated with a large deletion on MECP2Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene.
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Barriers to diagnosis of a rare neurological disorder in China-Lived experiences of Rett syndrome familiesFourteen of 74 Chinese families known to the International Rett Syndrome Phenotype Database participated in this qualitative study.
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The diagnostic odyssey to Rett syndrome: The experience of an Australian familyThe diagnosis of a rare disorder is dependent on the clinician's particular knowledge and experience, and can be challenging when the presentation is variable.